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Case ID: 723 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 0_<2 | 0_<2 | |||
| FVII:Ag% | 30 | |||
| Reported Clinical Severity | Severe | |||
| Comments | ||||
| Reference | Fromovich-Amit et al 2004 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | ||
The details of the variants found in this patient are listed below
| Variant ID | No. of Cases | MAF* | Genotype | Type | Effect | Location in gene | Mutation (cDNA) | Sequence Context | Amino Acid | Protein Change | Domain | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HGVS | Legacy | |||||||||||
| 22 | 3 | Homozygous | Deletion | Inframe | Exon 3 | c.250_252delTTC | del TTC | 84 | 24 | p.Phe84del | Gla | |